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Studying Rare Severe Hypertriglyceridemia To Better Understand Common Lipidemias

JUNE 30, 2014


Familial Cases of hypertriglyceridemia can either be rare - such as patients with familial chylomicronemia syndrome (FCS) which is an autosomal, recessive genetic defect affecting 1 in 1 million people - or fairly common, such as those with only one mutation (heterozygous) of the gene controlling lipoprotein lipase, which affects about 1 in 600 individuals.  

In this interview with Rare Disease Report, Dr Daniel Gaudet explains that by studying the pathophysiology of rare conditions like FCS we can not only help develop treatments for those rare patients but we can also develop a better understanding of more common hypertrigycleridemia conditions.

For more information about FCS, visit http://fcs.raredr.com/

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